Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 3507
Gene Symbol: IGHM
IGHM 		immunoglobulin heavy constant mu 0.644 0.654
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4514
Gene Symbol: COX3
COX3 		cytochrome c oxidase III 0.546 0.808
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4538
Gene Symbol: ND4
ND4 		NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5 		NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4558
Gene Symbol: TRNF
TRNF 		tRNA 0.582 0.731
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4564
Gene Symbol: TRNH
TRNH 		tRNA 0.597 0.731
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		tRNA 0.534 0.731
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ 		tRNA 0.590 0.731
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2 		tRNA 0.579 0.731
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW 		tRNA 0.563 0.731
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 7467
Gene Symbol: WHCR
WHCR 		Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 1.000 0 0 2018 2018
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		FRAS1 related extracellular matrix 1 0.633 0.423 1.6E-52
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2 		multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB 		nebulin 0.608 0.692 4.6E-41
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0